cardiac info

[loneil1]

Hi all, we are going through the early processes to determine whether or not our 15 year old has Marfan's. The doctor that my husband took our son to was not very forthcoming about information and my husband is not great at asking medical questions. Can anyone tell me what the following means 'HSD with midsystolic click at the apex'? My son has many features consistent with Marfan's. My first child, a 15 year old, has scoliosis, stretchmarks, high arched palate, very tall and thin, with large hands and feet. Very lanky although he does not stand straight. He does get leg pain and migraines. The doctor noted the following 'HSD with midsystolic click at the apex' in a letter to a specialist but did not provide an explanation to my husband. I was unable to be at the appointment. I would have asked myself. had I been there.
My second child was born with Lissencephaly with cerebeller hypoplasia (d). An extremely rare autosomal recessive syndrome that is very severe and fatal. The gene for this has not yet been identified. He died aged 2. I myself have Keratoconus, inherited from my mother; I am also Thalassemia carrier. I feel overwhelmed. I can't believe that my surviving son may have Marfan's. Words can't describe how fed up I feel. I must have very bad luck. How can my family be affected by so many genetic syndromes? I knew about the Thalassemia trait before I had the children, but nothing else. I really feel that this can't be happening. What did I do wrong? Leanne